Clinical and research tests for C3152055 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
D2HGDH - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Nuclear Mitochondrial Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
2-OH Glutaric Aciduria Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Organic Aciduria Panel PreventionGenetics, part of Exact Sciences United States	39	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
D-2-hydroxyglutaric aciduria, 600721, Autosomal recessive; D2HGA1 (D-2-hydroxyglutaric aciduria) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
D-2-hydroxyglutaric aciduria, 600721, Autosomal recessive; D2HGA1 (D-2-hydroxyglutaric aciduria) (D2HGDH gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
D-2-hydroxyglutaric aciduria, 600721, Autosomal recessive; D2HGA1 (D-2-hydroxyglutaric aciduria) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
D-2-hydroxyglutaric aciduria, 600721, Autosomal recessive; D2HGA1 (D-2-hydroxyglutaric aciduria) (D2HGDH gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States	202	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hydroxyglutaric Aciduria Panel PreventionGenetics, part of Exact Sciences United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
D-2-Hydroxyglutaric Aciduria Type I via the D2HGDH Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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